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
EPHB2	2048	broad.mit.edu	37	1	23111326	23111326	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:23111326G>A	uc009vqj.1	+	2	713	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	EPHB2_uc001bge.3_Missense_Mutation_p.V190M|EPHB2_uc001bgf.3_Missense_Mutation_p.V190M|EPHB2_uc010odu.2_Missense_Mutation_p.V190M	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	190	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTCATCGCCGTGCGTGTCTT	0.622												
PTPRU	10076	broad.mit.edu	37	1	29606627	29606627	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:29606627G>A	uc001bru.3	+	10	1971	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	PTPRU_uc009vtq.3_Silent_p.P614P|PTPRU_uc009vtr.3_Silent_p.P614P|PTPRU_uc001brw.3_Silent_p.P614P	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	614	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCTGAGGCCGGCACAGGGCC	0.652												
RPL5	6125	broad.mit.edu	37	1	93298990	93298990	+	Nonsense_Mutation	SNP	C	C	A	rs148673599	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:93298990C>A	uc001doz.3	+	1	126	c.48C>A	c.(46-48)taC>taA	p.Y16*	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	16					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTAAGAGATACCAAGTGAAAT	0.318												
SYCP1	6847	broad.mit.edu	37	1	115401212	115401212	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:115401212G>A	uc001efr.3	+	5	545	c.336G>A	c.(334-336)gaG>gaA	p.E112E	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.E112E|SYCP1_uc009wgw.3_Silent_p.E112E	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	112					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTATAAGGAGGCTGAAAAGA	0.303												
SPAG17	200162	broad.mit.edu	37	1	118524021	118524021	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:118524021A>G	uc001ehk.2	-	42	5944	c.5876T>C	c.(5875-5877)tTc>tCc	p.F1959S	SPAG17_uc021osr.1_Missense_Mutation_p.F469S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1959						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATGTGGCTTGAAATCTAGAAA	0.338												
CRP	1401	broad.mit.edu	37	1	159683681	159683681	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:159683681C>A	uc001ftw.3	-	1	413	c.309G>T	c.(307-309)gaG>gaT	p.E103D	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	103	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.E103K(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTTCAGGAACCTCGAATAATA	0.468												
UHMK1	127933	broad.mit.edu	37	1	162492275	162492275	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:162492275G>C	uc001gcc.2	+	7	1391	c.1195G>C	c.(1195-1197)Gtt>Ctt	p.V399L	UHMK1_uc001gcd.3_Missense_Mutation_p.V325L|UHMK1_uc009wuu.2_3'UTR	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.	399	RRM.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGGAAGTTTGTTGTGGCTAC	0.423												
AXDND1	126859	broad.mit.edu	37	1	179399690	179399690	+	Missense_Mutation	SNP	A	A	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:179399690A>C	uc001gmo.3	+	13	1823	c.1436A>C	c.(1435-1437)gAg>gCg	p.E479A	AXDND1_uc001gmn.2_Missense_Mutation_p.E267A|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E437A	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	479										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCTACAAGCGAGACACTGAAA	0.368												
TDRD5	163589	broad.mit.edu	37	1	179620128	179620128	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:179620128G>A	uc010pnp.2	+	11	2445	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	TDRD5_uc021pfm.1_Missense_Mutation_p.E643K|TDRD5_uc001gnf.2_Missense_Mutation_p.E643K|TDRD5_uc021pfn.1_Missense_Mutation_p.E643K|TDRD5_uc001gnh.2_Missense_Mutation_p.E198K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	643					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTCAAACGAAGATGTCTA	0.413												
ITIH2	3698	broad.mit.edu	37	10	7759687	7759687	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:7759687G>T	uc001ijs.3	+	5	728	c.566G>T	c.(565-567)aGg>aTg	p.R189M		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	189					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGAAGTGGAGGAAGCTGGGC	0.522												
CTNNA3	29119	broad.mit.edu	37	10	68139038	68139038	+	Missense_Mutation	SNP	C	C	T	rs139378888	by1000genomes	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:68139038C>T	uc009xpn.1	-	11	1727	c.1604G>A	c.(1603-1605)cGt>cAt	p.R535H	CTNNA3_uc001jmw.2_Missense_Mutation_p.R535H	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	535			R -> C (in dbSNP:rs41274090).		cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACCCGCAGCACGGTCTAAATT	0.458												
PTEN	5728	broad.mit.edu	37	10	89711915	89711915	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:89711915A>G	uc001kfb.3	+	5	1565	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	178	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.Y177C(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y178del(2)|p.Y177fs*1(2)|p.Y27fs*1(2)|p.Y177*(2)|p.Y27_N212>Y(2)|p.Y178*(1)|p.G165_*404del(1)|p.V175fs*3(1)|p.Y177fs*2(1)|p.G165_K342del(1)|p.Y178fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTGTATTATTATAGCTACCTG	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
IFIT2	3433	broad.mit.edu	37	10	91066921	91066921	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:91066921A>T	uc009xts.3	+	1	1383	c.1208A>T	c.(1207-1209)cAg>cTg	p.Q403L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	403					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAAATAAACCAGAAATCAAGG	0.398												
SLC22A18	5002	broad.mit.edu	37	11	2939241	2939241	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:2939241G>A	uc001lwx.3	+	6	897	c.679G>A	c.(679-681)Gac>Aac	p.D227N	SLC22A18_uc001lwy.3_Missense_Mutation_p.D227N	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	227				D -> E (in Ref. 4; AAB82727 and 6; AAC23505).	excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGTGTGTTCGACCTGAAGGC	0.672												
OR4C13	283092	broad.mit.edu	37	11	49974296	49974296	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:49974296G>T	uc010rhz.2	+	0	354	c.322G>T	c.(322-324)Gtt>Ttt	p.V108F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTTCAGAGGTGTTGAGGTCAT	0.423												
OR5L1	219437	broad.mit.edu	37	11	55579768	55579768	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:55579768G>A	uc001nhw.1	+	0	826	c.826G>A	c.(826-828)Gtg>Atg	p.V276M		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T275N(2)|p.V276V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGTGGCCACCGTGTTCTACAC	0.458												
OR5M9	390162	broad.mit.edu	37	11	56230082	56230082	+	Missense_Mutation	SNP	C	C	T	rs148447943	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:56230082C>T	uc010rjj.2	-	0	796	c.796G>A	c.(796-798)Gta>Ata	p.V266I	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S265F(1)		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)					CCCTGCTCTACGGATTCCTCA	0.468												
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:64888248_64888250delTCT	uc001ocx.3	-	4	424_426	c.305_307delAGA	c.(304-309)aagaca>aca	p.K102del	MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.	0								p.K101K(1)		NS(3)|kidney(1)|large_intestine(2)	6						GCCCGACCTGTCTTCTTCTTCTT	0.542												
CTTN	2017	broad.mit.edu	37	11	70266538	70266538	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:70266538G>A	uc001opv.4	+	9	918	c.712G>A	c.(712-714)Gtg>Atg	p.V238M	CTTN_uc001opu.3_Missense_Mutation_p.V238M|CTTN_uc001opw.4_Missense_Mutation_p.V238M|CTTN_uc010rqm.2_5'UTR|CTTN_uc001opx.3_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	238						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AAAATTTGGTGTGCAGACAGA	0.458												
APLP2	334	broad.mit.edu	37	11	129992408	129992408	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:129992408G>A	uc010sby.2	+	6	1079	c.922_splice	c.e6+1	p.A308_splice	APLP2_uc001qfp.3_Splice_Site_p.A308_splice|APLP2_uc001qfq.3_Splice_Site_p.V308_splice|APLP2_uc010sbz.2_Splice_Site_p.V152_splice|APLP2_uc001qfr.3_Splice_Site_p.V130_splice|APLP2_uc001qfs.3_Intron|APLP2_uc021qsg.1_Splice_Site_p.A318_splice|APLP2_uc001qfv.3_Splice_Site_p.V255_splice	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	308	BPTI/Kunitz inhibitor.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGATGTCAAAGGTAACCCCAT	0.443												
KRT79	338785	broad.mit.edu	37	12	53217702	53217702	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:53217702A>G	uc001sbb.3	-	5	1148	c.1115T>C	c.(1114-1116)cTg>cCg	p.L372P	KRT79_uc001sba.3_Missense_Mutation_p.L143P	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	372	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCCCCTGCAGCCTCTGGAT	0.617												
PTPRB	5787	broad.mit.edu	37	12	70974843	70974843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:70974843G>A	uc001swb.4	-	7	1927	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	PTPRB_uc010sto.2_Nonsense_Mutation_p.R633*|PTPRB_uc010stp.2_Nonsense_Mutation_p.R543*|PTPRB_uc001swc.4_Nonsense_Mutation_p.R851*|PTPRB_uc001swa.4_Nonsense_Mutation_p.R851*|PTPRB_uc001swd.4_Nonsense_Mutation_p.R850*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.R730*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	633	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R633R(2)|p.R851R(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCACTTGTCGGGAAGAGATC	0.468												
ANO4	121601	broad.mit.edu	37	12	101493475	101493475	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:101493475T>C	uc010svm.1	+	21	2698	c.2126T>C	c.(2125-2127)cTc>cCc	p.L709P	ANO4_uc001thw.2_Missense_Mutation_p.L674P|ANO4_uc001thx.2_Missense_Mutation_p.L709P|ANO4_uc001thy.2_Missense_Mutation_p.L229P	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	709						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCTATGGACTCTTCGATGAA	0.333										HNSCC(74;0.22)		
RNF17	56163	broad.mit.edu	37	13	25373533	25373533	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:25373533G>A	uc001upr.3	+	12	1441	c.1400_splice	c.e12-1	p.G467_splice	RNF17_uc010tdd.1_Splice_Site_p.G326_splice|RNF17_uc010tde.2_Splice_Site_p.G467_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.G406_splice	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	467			G -> S (in dbSNP:rs9581180).		multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CATTATTTAGGTGCAAGAATA	0.328												
BRCA2	675	broad.mit.edu	37	13	32913746	32913746	+	Missense_Mutation	SNP	C	C	A	rs80358749		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:32913746C>A	uc001uub.1	+	10	5481	c.5254C>A	c.(5254-5256)Cat>Aat	p.H1752N		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1752					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTATTCCTACCATTCTGATGA	0.308			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
TNFSF11	8600	broad.mit.edu	37	13	43175077	43175077	+	Silent	SNP	T	T	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:43175077T>A	uc001uyu.2	+	3	641	c.492T>A	c.(490-492)ccT>ccA	p.P164P	TNFSF11_uc001uyt.2_Silent_p.P91P	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	164					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		AAGCTCAGCCTTTTGCTCATC	0.428												
OR4M1	441670	broad.mit.edu	37	14	20249338	20249338	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:20249338C>T	uc010tku.2	+	0	857	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTTAATCCCATTATTTAC	0.363												
CHD8	57680	broad.mit.edu	37	14	21897227	21897227	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:21897227G>C	uc001war.2	-	1	1176	c.1111C>G	c.(1111-1113)Cag>Gag	p.Q371E	CHD8_uc001was.2_Missense_Mutation_p.Q92E	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	371	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTCACTGGCTGGGTGGAGGGT	0.547												
SLC35F4	341880	broad.mit.edu	37	14	58063582	58063582	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:58063582G>C	uc021rtp.1	-						SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCACTGGTCAGTTTGTGGAAG	0.428												
ATG2B	55102	broad.mit.edu	37	14	96779478	96779478	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:96779478T>C	uc001yfi.3	-	24	4131	c.3766A>G	c.(3766-3768)Atc>Gtc	p.I1256V		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1256										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGAGATCGGATTGGCAAATAA	0.378												
FAM81A	145773	broad.mit.edu	37	15	59752269	59752269	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:59752269G>A	uc002agc.2	+	2	345	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	FAM81A_uc010uha.2_Missense_Mutation_p.R53Q	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.	53										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CACGCCTTTCGGATTAAAGAT	0.502												
MAN2A2	4122	broad.mit.edu	37	15	91452684	91452684	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:91452684T>C	uc010bnz.2	+	8	1439	c.1324T>C	c.(1324-1326)Tac>Cac	p.Y442H	MAN2A2_uc010boa.3_Missense_Mutation_p.Y484H|MAN2A2_uc002bqc.3_Missense_Mutation_p.Y442H|MAN2A2_uc010uql.2_Missense_Mutation_p.Y146H|MAN2A2_uc010uqm.2_Silent_p.T88T|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	442					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTTCTTCAACTACCAACGGCT	0.567												
SPATA8	145946	broad.mit.edu	37	15	97326893	97326893	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:97326893C>T	uc002bue.3	+	0	215	c.8C>T	c.(7-9)cCg>cTg	p.P3L	DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	3										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GGAATGGCCCCGGCTGGGATG	0.567												
PDILT	204474	broad.mit.edu	37	16	20373885	20373885	+	Missense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:20373885C>G	uc002dhc.1	-	9	1480	c.1257G>C	c.(1255-1257)aaG>aaC	p.K419N		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	419	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCATCTTGCACTTTTTAGACC	0.473												
ERN2	10595	broad.mit.edu	37	16	23712369	23712369	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:23712369A>G	uc002dma.4	-	11	1583	c.1414T>C	c.(1414-1416)Tct>Cct	p.S472P	ERN2_uc010bxp.3_Intron|ERN2_uc010bxq.1_Missense_Mutation_p.S280P	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	424				FAH -> TAD (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCAAGTAAGAGTCTGGAGTT	0.562												
PRKCB	5579	broad.mit.edu	37	16	24202548	24202548	+	Silent	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:24202548A>G	uc002dmd.3	+	15	2057	c.1860A>G	c.(1858-1860)aaA>aaG	p.K620K	PRKCB_uc002dme.3_Silent_p.K620K	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	620	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATAAGCCAAAAGCTGTAAGTA	0.473												
LPCAT2	54947	broad.mit.edu	37	16	55543215	55543215	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:55543215C>T	uc002eie.4	+	0	303	c.122C>T	c.(121-123)cCg>cTg	p.P41L		NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	41					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCGCCGGTGCCGAACCCCTTC	0.726												
C16orf46	123775	broad.mit.edu	37	16	81095126	81095126	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:81095126G>A	uc002fgc.4	-	3	1087	c.828C>T	c.(826-828)aaC>aaT	p.N276N	C16orf46_uc010chf.3_Silent_p.N276N|C16orf46_uc010vno.2_Silent_p.N3N	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	276										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						ATGGCGTGTCGTTGACCATAG	0.552												
KIAA0513	9764	broad.mit.edu	37	16	85120720	85120720	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:85120720G>A	uc002fiu.3	+	11	1354	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	KIAA0513_uc010voj.2_Silent_p.K368K	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	378						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGAACAAGAAGCTGTGCAATG	0.612											OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SENP3	26168	broad.mit.edu	37	17	7466491	7466491	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:7466491G>A	uc002ghm.3	+	1	381	c.98G>A	c.(97-99)cGt>cAt	p.R33H	EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.	33	Pro-rich.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GAGCGTCTTCGTTGGCCCCCA	0.637												
ALOX15B	247	broad.mit.edu	37	17	7948185	7948185	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:7948185G>A	uc002gju.3	+	5	831	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	ALOX15B_uc002gjv.3_Missense_Mutation_p.A239T|ALOX15B_uc002gjw.3_Missense_Mutation_p.A239T|ALOX15B_uc010vun.2_Missense_Mutation_p.A239T|ALOX15B_uc010cnp.3_Missense_Mutation_p.A45T	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	239	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGCCTTCTTCGCCTCCCAGTT	0.607												
KRT24	192666	broad.mit.edu	37	17	38859417	38859417	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:38859417C>T	uc002hvd.3	-	0	586	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	177	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCATATTTGTCATACCACTCC	0.458												
ABCA6	23460	broad.mit.edu	37	17	67079124	67079124	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:67079124G>C	uc002jhw.1	-	35	4681	c.4506C>G	c.(4504-4506)aaC>aaG	p.N1502K		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1502	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGCCAAGTTTGTTTTTCAGGT	0.378												
ZNF236	7776	broad.mit.edu	37	18	74625839	74625839	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr18:74625839G>A	uc002lmi.3	+	17	3238	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1014					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGTCCCACGAGAAGACACA	0.483												
PTPRS	5802	broad.mit.edu	37	19	5221104	5221104	+	Missense_Mutation	SNP	A	A	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:5221104A>C	uc002mbv.3	-	19	3596	c.3362T>G	c.(3361-3363)cTg>cGg	p.L1121R	PTPRS_uc002mbu.1_Missense_Mutation_p.L690R|PTPRS_uc010xin.2_Missense_Mutation_p.L690R|PTPRS_uc002mbw.3_Missense_Mutation_p.L1099R|PTPRS_uc002mbx.3_Missense_Mutation_p.L694R|PTPRS_uc002mby.3_Missense_Mutation_p.L690R	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1121					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCCGTTGAGCAGGTTGAAGGC	0.622												
CAMSAP3	57662	broad.mit.edu	37	19	7676675	7676675	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:7676675G>A	uc002mgu.4	+	12	1478	c.1377G>A	c.(1375-1377)tcG>tcA	p.S459S	CAMSAP3_uc002mgv.4_Silent_p.S432S|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	432	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGTGAGCTCGGACAGCCTGG	0.687												
ZNF99	7652	broad.mit.edu	37	19	22940690	22940690	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:22940690T>C	uc021urt.1	-	3	2176	c.2021A>G	c.(2020-2022)gAg>gGg	p.E674G		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTAGGGTTTCTCTTCAGTATG	0.358												
CLASRP	11129	broad.mit.edu	37	19	45561033	45561033	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:45561033G>A	uc002pak.3	+	6	588	c.490G>A	c.(490-492)Ggt>Agt	p.G164S	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.G102S|CLASRP_uc002pam.3_Missense_Mutation_p.G164S|CLASRP_uc002pan.1_Non-coding_Transcript	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	164					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGCTTCCATCGGTTATACCTA	0.617												
ZNF347	84671	broad.mit.edu	37	19	53645135	53645135	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:53645135G>A	uc002qbc.2	-	4	1376	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	ZNF347_uc002qbb.2_Missense_Mutation_p.R316C|ZNF347_uc010eql.2_Missense_Mutation_p.R317C	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CATTTGTAACGTTTTTCGCCA	0.373												
LILRA4	23547	broad.mit.edu	37	19	54850352	54850352	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:54850352G>C	uc002qfj.3	-	0	70	c.13C>G	c.(13-15)Ctc>Gtc	p.L5V	LILRA4_uc002qfi.3_5'UTR	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	5						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGGCTTGTGAGAATGAGGGTC	0.567												
EHD3	30845	broad.mit.edu	37	2	31483756	31483756	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:31483756A>G	uc002rnu.3	+	3	1491	c.883A>G	c.(883-885)Aac>Gac	p.N295D	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	295					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCGCAAGCTCAACGACCTCAT	0.622												
RAB11FIP5	26056	broad.mit.edu	37	2	73316366	73316366	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:73316366C>T	uc002siu.4	-	1	750	c.509G>A	c.(508-510)cGc>cAc	p.R170H	RAB11FIP5_uc002sit.4_Missense_Mutation_p.R92H	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	170					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGTTGTTGCGCGTGAACTG	0.532												
NCAPH	23397	broad.mit.edu	37	2	97035182	97035182	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:97035182C>A	uc002svz.1	+	16	2194	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K	NCAPH_uc010yum.1_Missense_Mutation_p.Q680K|NCAPH_uc010yun.1_Missense_Mutation_p.Q568K	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	704					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TGTCATGGCTCAGAACCTCTC	0.438												
SP3	6670	broad.mit.edu	37	2	174783399	174783399	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:174783399C>T	uc002uig.3	-	4	2285	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	SP3_uc002uie.3_Missense_Mutation_p.G517E|SP3_uc002uif.3_Missense_Mutation_p.G532E|SP3_uc010zel.2_Missense_Mutation_p.G582E	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	585	Repressor domain.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TTGTTGGTCCCCTTCTTCATC	0.448												
TTN	7273	broad.mit.edu	37	2	179483009	179483009	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:179483009C>A	uc021vsy.1	-	200	39697	c.39472G>T	c.(39472-39474)Gtt>Ttt	p.V13158F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V6853F|TTN_uc021vta.1_Missense_Mutation_p.V6786F|TTN_uc021vtb.1_Missense_Mutation_p.V6661F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14085	Ig-like 87.						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)			AGGTACTCAACTCCTCCTTTC	0.458												
TTN	7273	broad.mit.edu	37	2	179650718	179650718	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:179650718C>T	uc021vsy.1	-	13	2452	c.2227G>A	c.(2227-2229)Gcc>Acc	p.A743T	TTN_uc021vsz.1_Missense_Mutation_p.A697T|TTN_uc021vta.1_Missense_Mutation_p.A697T|TTN_uc021vtb.1_Missense_Mutation_p.A697T|TTN_uc002unb.2_Missense_Mutation_p.A743T|TTN_uc010frg.1_Missense_Mutation_p.A325T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	743			A -> V (in CMD1G; affects interaction with TCAP/telethonin).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A743T(3)|p.A697T(3)		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)			ACCTTTGCGGCGGAAATGCGT	0.547												
THAP4	51078	broad.mit.edu	37	2	242576398	242576398	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:242576398T>C	uc002wbt.3	-	0	328	c.35A>G	c.(34-36)aAc>aGc	p.N12S	ATG4B_uc002wbu.3_5'Flank|ATG4B_uc002wbv.3_5'Flank|ATG4B_uc002wbw.3_5'Flank|ATG4B_uc010zox.2_5'Flank|ATG4B_uc010zoy.2_5'Flank|ATG4B_uc010fzp.3_5'Flank	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	12							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCCCTGCCGGTTGGAGCAGTT	0.771												
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr20:29625941A>T	uc010ztl.1	+	1	127	c.95A>T	c.(94-96)gAt>gTt	p.D32V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.D62V(2)|p.A32T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333												
REM1	28954	broad.mit.edu	37	20	30065686	30065686	+	Silent	SNP	C	C	T	rs147559982		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr20:30065686C>T	uc002wwa.3	+	2	680	c.396C>T	c.(394-396)gtC>gtT	p.V132V		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	132					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACTGGTGGTCGTGGACACCT	0.572												
ITGA9	3680	broad.mit.edu	37	3	37583996	37583996	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:37583996G>A	uc003chd.3	+	14	1662	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	ITGA9_uc003chc.3_Missense_Mutation_p.E537K	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	537					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCTGCTGGGAGAGACCATGGG	0.527												
SCN10A	6336	broad.mit.edu	37	3	38835414	38835414	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:38835414C>T	uc003ciq.3	-	0	88	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	30					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCCTGCTTGGCAGCAATTTGC	0.507												
EPHA3	2042	broad.mit.edu	37	3	89259060	89259060	+	Nonsense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:89259060C>G	uc003dqy.3	+	2	429	c.204C>G	c.(202-204)taC>taG	p.Y68*	EPHA3_uc003dqx.1_Nonsense_Mutation_p.Y68*|EPHA3_uc021xbf.1_Nonsense_Mutation_p.Y68*	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	68						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCAGGACTTACCAGGTGTGCA	0.438										TSP Lung(6;0.00050)		
OR5H1	26341	broad.mit.edu	37	3	97852369	97852369	+	Silent	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:97852369A>G	uc011bgt.2	+	0	828	c.828A>G	c.(826-828)ctA>ctG	p.L276L		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGGAGCCTCTATTCTACACTG	0.388												
PARP9	83666	broad.mit.edu	37	3	122271392	122271392	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:122271392G>A	uc010hri.3	-	4	1230	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	PARP9_uc003eff.4_Missense_Mutation_p.S327L|PARP9_uc011bjs.2_Missense_Mutation_p.S327L|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.S327L|PARP9_uc003efh.3_Missense_Mutation_p.S362L|PARP9_uc003efj.2_Missense_Mutation_p.S327L	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	362	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAGAAATTCCGATTTCATTTC	0.373												
CPNE4	131034	broad.mit.edu	37	3	131261494	131261494	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:131261494C>T	uc011blq.2	-	14	1610	c.1500G>A	c.(1498-1500)atG>atA	p.M500I	CPNE4_uc003eok.3_Missense_Mutation_p.M482I|CPNE4_uc003eol.3_Missense_Mutation_p.M500I|CPNE4_uc003eom.3_Missense_Mutation_p.M482I|CPNE4_uc003eoj.3_Missense_Mutation_p.M33I	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	482	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CACCGTCCAGCATCTGCATGT	0.557												
NPHP3	27031	broad.mit.edu	37	3	132413753	132413754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:132413753_132413754insC	uc003epe.2	-	15	2331_2332	c.2227_2228insG	c.(2227-2229)gatfs	p.D743fs	NPHP3_uc003epd.2_5'UTR	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	743					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAAAGAGTATCTTGACACTGG	0.381												
ALG3	10195	broad.mit.edu	37	3	183961666	183961666	+	Missense_Mutation	SNP	G	G	A	rs2233466	by1000genomes	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:183961666G>A	uc003fne.2	-	5	876	c.845C>T	c.(844-846)gCg>gTg	p.A282V	ALG3_uc011brc.1_Missense_Mutation_p.A247V|ALG3_uc011brd.1_Missense_Mutation_p.A226V|ALG3_uc011bre.1_Missense_Mutation_p.A234V	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	282					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGAAGAGCGCCTCTGGGAG	0.612												
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	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.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		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)		GAGGGGTGGCGTGACCTGTGG	0.597												
UGT2B10	7365	broad.mit.edu	37	4	69870669	69870669	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:69870669C>A	uc011cao.1	-	7	1486	c.1360G>T	c.(1360-1362)Gcc>Tcc	p.A454S	UGT2B10_uc011can.1_Missense_Mutation_p.A370S			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	498					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCCACACAGGCCAGCAGGAAC	0.448												
CDKL2	8999	broad.mit.edu	37	4	76522320	76522320	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:76522320T>C	uc011cbp.2	-	8	1646	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	CDKL2_uc003hiq.3_Missense_Mutation_p.N374S	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	374					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGCTGGCATTTGAAGCTCT	0.393												
THAP9	79725	broad.mit.edu	37	4	83825996	83825996	+	Missense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:83825996C>G	uc003hnt.2	+	1	307	c.188C>G	c.(187-189)tCc>tGc	p.S63C	THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_5'UTR	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	63							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATACTGTGTTCCAAACATTTT	0.403												
GK	2713	broad.mit.edu	37	4	166199810	166199810	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:166199810G>A	uc003ird.3	-	0	1366	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	336					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CTTAGCCAGCGAATAACAGCA	0.428												
DDX60L	91351	broad.mit.edu	37	4	169279395	169279395	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:169279395C>T	uc021xuh.1	-	36	5134	c.5024G>A	c.(5023-5025)cGt>cAt	p.R1675H	DDX60L_uc003irq.4_Missense_Mutation_p.R1675H	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1675							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TACATTGTCACGCTTATTTTC	0.269												
MYO10	4651	broad.mit.edu	37	5	16877810	16877810	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:16877810G>A	uc003jft.4	-	1	496	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	MYO10_uc003jfu.2_Intron|MYO10_uc003jfv.2_Missense_Mutation_p.R10W	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	10	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGCCAGACCCGTGTTCCCTGT	0.438												
PARP8	79668	broad.mit.edu	37	5	50091080	50091080	+	Silent	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:50091080A>G	uc003jon.4	+	12	1439	c.1257A>G	c.(1255-1257)gaA>gaG	p.E419E	PARP8_uc011cpz.2_Silent_p.E311E|PARP8_uc003joo.3_Silent_p.E419E|PARP8_uc003jop.3_Silent_p.E419E	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	419						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GAATGGAAGAATTATATGGAC	0.438												
DDX4	54514	broad.mit.edu	37	5	55083703	55083703	+	Silent	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:55083703T>C	uc003jqg.4	+	14	1146	c.1047T>C	c.(1045-1047)caT>caC	p.H349H	DDX4_uc010ivz.3_Silent_p.H329H|DDX4_uc003jqh.4_Silent_p.H315H|DDX4_uc003jqj.3_Silent_p.H200H	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	349	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGGCTCATATGATGCATG	0.383												
MAST4	375449	broad.mit.edu	37	5	66460727	66460727	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:66460727C>A	uc021xzk.1	+	28	6028	c.5720C>A	c.(5719-5721)gCc>gAc	p.A1907D	MAST4_uc003jut.2_Missense_Mutation_p.A1718D|MAST4_uc003juw.3_Missense_Mutation_p.A1646D|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1910						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CATCCTACTGCCAGGAGCCCT	0.582												
PIK3R1	5295	broad.mit.edu	37	5	67591145	67591145	+	Missense_Mutation	SNP	T	T	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:67591145T>G	uc003jva.3	+	12	2318	c.1738T>G	c.(1738-1740)Tac>Gac	p.Y580D	PIK3R1_uc003jvc.3_Missense_Mutation_p.Y280D|PIK3R1_uc003jvd.3_Missense_Mutation_p.Y310D|PIK3R1_uc003jve.3_Missense_Mutation_p.Y259D|PIK3R1_uc021xzn.1_Missense_Mutation_p.Y217D|PIK3R1_uc011crb.2_Missense_Mutation_p.Y250D	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	580					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.R577_M582>K(2)|p.Q579_Y580insDK(2)|p.0?(1)|p.?(1)|p.Q579fs*23(1)|p.Y580fs*1(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)	GAGAGACCAATACTTGATGTA	0.368			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
PCDHAC2	56145	broad.mit.edu	37	5	140182250	140182250	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:140182250G>C	uc003lhf.2	+	0	1468	c.1468G>C	c.(1468-1470)Gtg>Ctg	p.V490L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.V490L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	504	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCCCTGGTGTCCTACTC	0.677												
PCDHAC2	56136	broad.mit.edu	37	5	140263908	140263908	+	Silent	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:140263908C>T	uc003lif.2	+	0	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.G685G|PCDHAC2_uc003lid.3_Silent_p.G685G	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	698	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCAGGCGCTGTGGGTC	0.632												
KIF4B	285643	broad.mit.edu	37	5	154393521	154393521	+	Silent	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:154393521C>T	uc010jih.1	+	0	262	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	34	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCTTTCCTTCGTGCCCGGGG	0.512												
ADAMTS2	9509	broad.mit.edu	37	5	178579165	178579165	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:178579165C>T	uc003mjw.3	-	9	1709	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E	ADAMTS2_uc011dgm.2_Missense_Mutation_p.G536E	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	536	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACACATAGTCCCGTCCAAGGG	0.602												
COL11A2	1302	broad.mit.edu	37	6	33132163	33132163	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:33132163C>A	uc003ocx.1	-	64	5179	c.4951G>T	c.(4951-4953)Gtc>Ttc	p.V1651F	COL11A2_uc010jul.1_Missense_Mutation_p.V221F|COL11A2_uc003ocy.1_Missense_Mutation_p.V1565F|COL11A2_uc003ocz.1_Missense_Mutation_p.V1544F	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1651	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGTAGGAGACGTCCTGGTGG	0.622												
CLPSL1	340204	broad.mit.edu	37	6	35754829	35754829	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:35754829C>T	uc003old.4	+	1	211	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C		NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN	Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.	52					digestion|lipid catabolic process	extracellular region	enzyme activator activity										CTGCTGCCAACGTGCTCCAGA	0.672												
KHDRBS2	202559	broad.mit.edu	37	6	62407128	62407128	+	Silent	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:62407128T>C	uc003peg.2	-	7	1171	c.924A>G	c.(922-924)ggA>ggG	p.G308G		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	308			G -> A (in dbSNP:rs7449840).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTCACTTACTCCATGACCGT	0.378												
EYS	346007	broad.mit.edu	37	6	66094367	66094367	+	Missense_Mutation	SNP	T	T	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:66094367T>A	uc011dxu.1	-	7	1749	c.1211A>T	c.(1210-1212)aAc>aTc	p.N404I	EYS_uc003peq.3_Missense_Mutation_p.N404I|EYS_uc003per.1_Missense_Mutation_p.N404I|EYS_uc021zbn.1_Missense_Mutation_p.N404I	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	404	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTCTCACAGTTTTTTTCAGT	0.284												
NT5E	4907	broad.mit.edu	37	6	86203654	86203654	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:86203654C>T	uc003pko.4	+	8	2213	c.1657C>T	c.(1657-1659)Cac>Tac	p.H553Y	NT5E_uc010kbr.3_Missense_Mutation_p.H503Y	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	553					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CACAGGAAGTCACTGCCATGG	0.363												
ROS1	6098	broad.mit.edu	37	6	117715327	117715327	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:117715327G>C	uc003pxp.1	-	9	1361	c.1162C>G	c.(1162-1164)Ctg>Gtg	p.L388V	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	388					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGACTAACCAGTTCATCCATG	0.323			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""							
CLVS2	134829	broad.mit.edu	37	6	123319281	123319281	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:123319281T>C	uc003pzi.1	+	1	1228	c.359T>C	c.(358-360)gTc>gCc	p.V120A		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	120	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAGATTCTAGTCCTTTTTGCT	0.483												
KIAA1244	57221	broad.mit.edu	37	6	138638494	138638494	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:138638494G>C	uc003qhu.3	+	26	4623	c.4452G>C	c.(4450-4452)ttG>ttC	p.L1484F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1484					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTGAGCTGTTGAGAGATGTGA	0.468												
SP4	6671	broad.mit.edu	37	7	21469834	21469834	+	Missense_Mutation	SNP	T	T	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:21469834T>A	uc003sva.3	+	2	1232	c.1051T>A	c.(1051-1053)Tca>Aca	p.S351T	SP4_uc003svb.3_Missense_Mutation_p.S38T	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	351					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGCAAGCACATCAGCCAGTAG	0.502												
DYNC1I1	1780	broad.mit.edu	37	7	95665015	95665015	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:95665015G>A	uc003uoc.4	+	12	1643	c.1366G>A	c.(1366-1368)Gtg>Atg	p.V456M	DYNC1I1_uc003uod.4_Missense_Mutation_p.V439M|DYNC1I1_uc003uob.3_Missense_Mutation_p.V419M|DYNC1I1_uc003uoe.4_Missense_Mutation_p.V436M|DYNC1I1_uc010lfl.3_Missense_Mutation_p.V445M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	456					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAATAACTTCGTGGTTGGCAG	0.473												
SLC12A9	56996	broad.mit.edu	37	7	100451836	100451836	+	Nonsense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:100451836C>G	uc003uwp.3	+	1	159	c.17C>G	c.(16-18)tCa>tGa	p.S6*	SLC12A9_uc003uwo.1_Nonsense_Mutation_p.S6*|SLC12A9_uc003uwq.3_Nonsense_Mutation_p.S6*|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	6						integral to membrane|plasma membrane	cation:chloride symporter activity	p.S6S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCGAGAGCTCACCTCTGCTG	0.632												
PLXNA4	91584	broad.mit.edu	37	7	131883269	131883269	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:131883269C>T	uc003vra.4	-	12	2942	c.2713G>A	c.(2713-2715)Gtg>Atg	p.V905M		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	905	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane		p.V905M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAACCATCCACTAAAGGGCTG	0.562												
BLK	640	broad.mit.edu	37	8	11400849	11400849	+	Missense_Mutation	SNP	C	C	T	rs142352008	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:11400849C>T	uc003wty.3	+	1	697	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	39					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCGCCACTGCCGCCCCTGGTG	0.532												
GRHL2	79977	broad.mit.edu	37	8	102585963	102585963	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:102585963A>T	uc010mbu.3	+	5	1132	c.802A>T	c.(802-804)Acc>Tcc	p.T268S	GRHL2_uc011lhi.1_Missense_Mutation_p.T268S	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	268						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGGCCCCATGACCTACCTCAA	0.532												
FER1L6	654463	broad.mit.edu	37	8	124992825	124992825	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:124992825G>A	uc003yqw.3	+	10	1390	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	395						integral to membrane		p.R394K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTCAGGGGCAGAATCTTG	0.507											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CHRAC1	54108	broad.mit.edu	37	8	141525277	141525277	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:141525277G>A	uc003yvl.3	+	2	529	c.327G>A	c.(325-327)gaG>gaA	p.E109E	CHRAC1_uc010mem.2_Non-coding_Transcript|CHRAC1_uc022bbv.1_Non-coding_Transcript	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	Homo sapiens chromatin accessibility complex 1 (CHRAC1), transcript variant 1, mRNA.	109					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			TGCTTAAAGAGGAAAAGAGGG	0.353												
TOPORS	10210	broad.mit.edu	37	9	32543467	32543467	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr9:32543467T>C	uc003zrb.3	-	2	1248	c.1056A>G	c.(1054-1056)atA>atG	p.I352M	TOPORS_uc003zrc.3_Missense_Mutation_p.I287M	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	352	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAATTCATGTATAAAATGCT	0.398												
ZMYND19	116225	broad.mit.edu	37	9	140477434	140477434	+	Splice_Site	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr9:140477434C>T	uc004cno.1	-	5	762	c.540_splice	c.e5+1	p.Q180_splice		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	Homo sapiens zinc finger, MYND-type containing 19 (ZMYND19), mRNA.	180						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGCACACCCACCTGCTTCTCA	0.587												
PORCN	64840	broad.mit.edu	37	X	48371104	48371104	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:48371104G>A	uc010nie.1	+	5	841	c.683G>A	c.(682-684)cGc>cAc	p.R228H	PORCN_uc004djr.1_Missense_Mutation_p.R228H|PORCN_uc004djs.1_Missense_Mutation_p.R228H|PORCN_uc011mlx.1_Missense_Mutation_p.R157H|PORCN_uc004dju.1_Missense_Mutation_p.R97H|PORCN_uc004djv.1_Missense_Mutation_p.R228H|PORCN_uc004djw.1_Missense_Mutation_p.R228H	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	228			R -> C (in a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain pathological significance).		Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCTCCTTCGCAAGTGAGCA	0.622												
PQBP1	10084	broad.mit.edu	37	X	48759746	48759746	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:48759746C>T	uc004dlh.3	+	4	638	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	PQBP1_uc022bvv.1_Missense_Mutation_p.R169C|PQBP1_uc004dle.3_Missense_Mutation_p.R177C|PQBP1_uc004dlf.3_Missense_Mutation_p.R177C|PQBP1_uc004dlg.3_Missense_Mutation_p.R177C|PQBP1_uc004dln.3_Missense_Mutation_p.R177C|PQBP1_uc004dlk.3_Intron|PQBP1_uc004dli.3_Missense_Mutation_p.R177C|PQBP1_uc004dlj.1_Missense_Mutation_p.R177C|PQBP1_uc004dlm.3_Missense_Mutation_p.R135C|PQBP1_uc010nii.3_Missense_Mutation_p.R135C|PQBP1_uc004dll.3_Intron|PQBP1_uc022bvw.1_Non-coding_Transcript|PQBP1_uc022bvx.1_Intron|PQBP1_uc010nij.3_Missense_Mutation_p.R77C	NM_001032384	NP_005701	O60828	PQBP1_HUMAN	Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 5, mRNA.	177	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAAAGAACGGCGCCACCATCG	0.612												
CHM	1121	broad.mit.edu	37	X	85156121	85156121	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:85156121A>T	uc004eet.3	-	9	1347	c.1317T>A	c.(1315-1317)ttT>ttA	p.F439L	CHM_uc011mqz.2_Missense_Mutation_p.F291L	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	439					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGTTCTCAGGAAAGTAACTGT	0.393												
CXorf61	203413	broad.mit.edu	37	X	115592953	115592953	+	Silent	SNP	A	A	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:115592953A>C	uc004eqj.1	-	1	417	c.297T>G	c.(295-297)ctT>ctG	p.L99L		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.	99						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						AACCCTTGCTAAGTAGAGTAT	0.418												
ARHGEF6	9459	broad.mit.edu	37	X	135825762	135825762	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:135825762G>A	uc004fab.3	-	4	1105	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	ARHGEF6_uc011mwd.2_Missense_Mutation_p.R61C|ARHGEF6_uc011mwe.2_Missense_Mutation_p.R61C	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	215	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R215H(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTAATTTCACGGACATAATTA	0.388												
MCF2	4168	broad.mit.edu	37	X	138668562	138668562	+	Silent	SNP	C	C	T	rs142128026	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:138668562C>T	uc011mwn.1	-						MCF2_uc004fav.3_Silent_p.A885A|MCF2_uc004fau.3_Silent_p.A869A|MCF2_uc010nsh.2_Intron|MCF2_uc011mwm.2_Intron|MCF2_uc011mwl.2_Silent_p.A846A|MCF2_uc011mwo.1_Silent_p.A945A|MCF2_uc004faw.2_Silent_p.A929A	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTGAACTGACGCAATTGCCT	0.413												
IDS	3423	broad.mit.edu	37	X	148564457	148564457	+	Silent	SNP	G	G	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:148564457G>T	uc011mxe.2	-	8	1690	c.1473C>A	c.(1471-1473)tcC>tcA	p.S491S	IDS_uc011mxd.2_Silent_p.S94S|IDS_uc011mxf.2_Silent_p.S401S|IDS_uc011mxg.2_Silent_p.S280S|IDS_uc010nsu.2_Silent_p.S101S|IDS_uc004fcw.4_Silent_p.S280S	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	491			S -> F (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGTGCGTATGGAATAGCCCA	0.433												
DKC1	1736	broad.mit.edu	37	X	154001511	154001511	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:154001511G>C	uc004fmm.3	+	10	1352	c.1142G>C	c.(1141-1143)gGt>gCt	p.G381A	DKC1_uc010nvf.3_Missense_Mutation_p.G381A|SNORA56_uc004fmo.3_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	381					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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)					CGGAAGTGGGGTTTAGGTCCA	0.408									Congenital Dyskeratosis