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
CCDC27	148870	broad.mit.edu	37	1	3684010	3684010	+	Splice_Site	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:3684010G>A	uc001akv.2	+	10	1824	c.1743_splice	c.e10+1	p.R581_splice		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	581										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCAGTCCAGGGTATGCCCAGC	0.647												
CASZ1	54897	broad.mit.edu	37	1	10702922	10702922	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:10702922C>T	uc001aro.3	-	19	4476	c.4156G>A	c.(4156-4158)Gcg>Acg	p.A1386T		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCACCTGCCGCGGTGCTCTCG	0.687												
HSPG2	3339	broad.mit.edu	37	1	22170742	22170742	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:22170742C>G	uc009vqd.3	-	64	8558	c.8518G>C	c.(8518-8520)Gca>Cca	p.A2840P	HSPG2_uc001bfj.3_Missense_Mutation_p.A2839P	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2839	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCCTTCTGCCACTCGGGAG	0.682												
GRIK3	2899	broad.mit.edu	37	1	37282846	37282846	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:37282846G>A	uc001caz.2	-	12	2041	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	GRIK3_uc001cba.1_Missense_Mutation_p.R636C	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	636					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCAATGATGCGTGTGGACAGG	0.562												
PIK3R3	8503	broad.mit.edu	37	1	46509434	46509434	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:46509434G>T	uc010olw.2	-	9	1452	c.1435C>A	c.(1435-1437)Cag>Aag	p.Q479K	PIK3R3_uc001cpb.4_Missense_Mutation_p.Q433K|PIK3R3_uc009vyb.3_Missense_Mutation_p.Q374K|PIK3R3_uc009vyc.3_Missense_Mutation_p.Q450K|PIK3R3_uc001cpc.4_Missense_Mutation_p.Q433K|PIK3R3_uc010olv.2_Missense_Mutation_p.Q223K	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	433					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GATGTCTGCTGGTAATGGAGC	0.532												
PARS2	25973	broad.mit.edu	37	1	55224003	55224003	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:55224003A>T	uc021ont.1	-	0	832	c.832T>A	c.(832-834)Ttc>Atc	p.F278I	PARS2_uc001cxy.3_Missense_Mutation_p.F278I	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	278					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TTGGCTGAGAAGCTGCAGCGG	0.562												
LRRIQ3	127255	broad.mit.edu	37	1	74507037	74507037	+	Silent	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:74507037A>G	uc001dfy.4	-	6	1770	c.1578T>C	c.(1576-1578)acT>acC	p.T526T	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	526								p.T526T(2)|p.R525C(2)|p.R525L(1)|p.R525F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGGTCAAAAGAGTGCGCTCAT	0.358												
SF3B4	10262	broad.mit.edu	37	1	149898406	149898406	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:149898406C>G	uc001etk.2	-	2	1061	c.568G>C	c.(568-570)Gca>Cca	p.A190P	SF3B4_uc009wll.1_Missense_Mutation_p.A190P	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	190						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CGTTCGGCTGCTGAGCCATGG	0.562												
FMO3	2328	broad.mit.edu	37	1	171079944	171079944	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:171079944G>A	uc001ghi.3	+	5	744	c.633G>A	c.(631-633)atG>atA	p.M211I	FMO3_uc001ghh.3_Missense_Mutation_p.M211I|FMO3_uc010pmb.2_Missense_Mutation_p.M191I|FMO3_uc010pmc.2_Missense_Mutation_p.M148I	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	211					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTAAGGTCATGATCAGTTCCA	0.463												
ABL2	27	broad.mit.edu	37	1	179086548	179086548	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:179086548C>T	uc001gmj.4	-	7	1614	c.1327G>A	c.(1327-1329)Gct>Act	p.A443T	ABL2_uc010pnf.2_Missense_Mutation_p.A443T|ABL2_uc010png.2_Missense_Mutation_p.A422T|ABL2_uc010pnh.2_Missense_Mutation_p.A422T|ABL2_uc009wxe.3_Missense_Mutation_p.A422T|ABL2_uc001gmg.4_Missense_Mutation_p.A428T|ABL2_uc001gmi.4_Missense_Mutation_p.A428T|ABL2_uc010pne.2_Missense_Mutation_p.A407T|ABL2_uc001gmk.3_Missense_Mutation_p.A407T|ABL2_uc009wxf.2_Missense_Mutation_p.A428T	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	443	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGGCTCCAGCATGAGCAGTA	0.443			T	ETV6	AML							
PTPRC	5788	broad.mit.edu	37	1	198685877	198685877	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:198685877C>T	uc001gur.1	+	12	1532	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	PTPRC_uc001gut.1_Missense_Mutation_p.T290M|PTPRC_uc009wzf.1_Missense_Mutation_p.T339M|PTPRC_uc021pgy.1_Missense_Mutation_p.T405M|PTPRC_uc010ppg.1_Missense_Mutation_p.T387M	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	451	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAACCTTATACGAAATATGTT	0.313												
OPTC	26254	broad.mit.edu	37	1	203466194	203466194	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:203466194G>C	uc001gzu.1	+	2	437	c.321G>C	c.(319-321)atG>atC	p.M107I		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	107	Ser/Thr-rich.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCCCACGATGACCAGACCTA	0.562												
OBSCN	84033	broad.mit.edu	37	1	228404990	228404990	+	Splice_Site	SNP	G	G	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:228404990G>T	uc009xez.1	+	8	2697	c.2653_splice	c.e8+1	p.E885_splice	OBSCN_uc001hsn.3_Splice_Site_p.E885_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	885					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCGTCTCTGGTGAGCACGCT	0.652												
CHML	1122	broad.mit.edu	37	1	241797601	241797601	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:241797601G>A	uc001hzd.3	-	0	1632	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	490					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCTGTGACCCGTACAGCACAA	0.418												
OR2G6	391211	broad.mit.edu	37	1	248685648	248685648	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:248685648G>A	uc001ien.1	+	0	701	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCGGGCCGCCAAAAGGCC	0.473												
IDI2	91734	broad.mit.edu	37	10	1065753	1065753	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:1065753A>T	uc001ifv.1	-	4	453	c.388T>A	c.(388-390)Ttc>Atc	p.F130I	IDI2-AS1_uc010qaf.1_5'Flank|IDI2-AS1_uc001ifx.3_5'Flank|IDI2-AS1_uc001ifw.3_5'Flank|IDI2-AS1_uc001ify.3_5'Flank	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA.	130	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		ATTGTCATGAACACAATGTCC	0.373												
SYT15	83849	broad.mit.edu	37	10	46962073	46962073	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:46962073A>G	uc001jea.3	-	7	1316	c.1163T>C	c.(1162-1164)aTg>aCg	p.M388T	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.3_Missense_Mutation_p.M266T|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	388						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCGGGTGTACATGTAGGGGCC	0.672												
JMJD1C	221037	broad.mit.edu	37	10	64950737	64950737	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:64950737G>A	uc001jmn.3	-	16	6508	c.6208C>T	c.(6208-6210)Ctg>Ttg	p.L2070L	JMJD1C_uc001jml.3_Silent_p.L1833L|JMJD1C_uc001jmm.3_Silent_p.L1782L|JMJD1C_uc010qiq.2_Silent_p.L1888L|JMJD1C_uc009xpi.3_Silent_p.L1888L|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmo.3_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	2070					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.L2070L(1)|p.L1833L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTTGTAGTCAGCAAATCCCGT	0.463												
CALHM2	51063	broad.mit.edu	37	10	105207008	105207008	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:105207008C>G	uc001kxa.3	-	3	1484	c.873G>C	c.(871-873)caG>caC	p.Q291H	CALHM2_uc001kxc.3_3'UTR|CALHM2_uc001kxb.3_Missense_Mutation_p.Q291H	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	291						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GTGGGAGGCCCTGGTTCTCAC	0.627												
MUC2	4583	broad.mit.edu	37	11	1093681	1093681	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:1093681G>C	uc001lsx.1	+	32	5515	c.5488_splice	c.e32-1	p.G1830_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1915						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGAAGCACGGGGCCCCCCAC	0.617												
CHRNA10	57053	broad.mit.edu	37	11	3688949	3688949	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:3688949C>T	uc001lyf.3	-	3	480	c.408G>A	c.(406-408)ctG>ctA	p.L136L	CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	136					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CATCGTGGCGCAGGACCACGT	0.731												
QSER1	79832	broad.mit.edu	37	11	32979551	32979551	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:32979551C>T	uc001mty.3	+	7	4768	c.4501C>T	c.(4501-4503)Cgg>Tgg	p.R1501W	QSER1_uc001mtz.1_Missense_Mutation_p.R1262W|QSER1_uc001mua.3_Missense_Mutation_p.R1006W	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1501										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACCAAAGAAACGGAAAAAATG	0.413												
AGBL2	79841	broad.mit.edu	37	11	47726094	47726094	+	Splice_Site	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:47726094C>G	uc001ngg.3	-	7	888	c.586_splice	c.e7+1	p.E196_splice	AGBL2_uc010rhq.1_Splice_Site_p.E158_splice|AGBL2_uc001ngh.1_Splice_Site_p.E140_splice	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	196					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AGTCATATTACCAATATGATG	0.423												
EML3	256364	broad.mit.edu	37	11	62378668	62378668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:62378668C>A	uc010rly.1	-	2	651	c.343G>T	c.(343-345)Gag>Tag	p.E115*	EML3_uc001ntr.1_Nonsense_Mutation_p.E87*|EML3_uc001nts.1_Nonsense_Mutation_p.E87*|EML3_uc001ntt.1_Missense_Mutation_p.K11N|EML3_uc001ntu.1_Nonsense_Mutation_p.E115*|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	115						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCGCTAGGCTCTTCGCTGGCC	0.697												
CCDC87	55231	broad.mit.edu	37	11	66358101	66358101	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:66358101C>T	uc001oiq.4	-	0	2454	c.2386G>A	c.(2386-2388)Gag>Aag	p.E796K	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	796								p.E796*(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATCACTGGCTCGCCAAAGATT	0.532												
FAT3	120114	broad.mit.edu	37	11	92535042	92535042	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:92535042G>A	uc001pdj.4	+	8	8880	c.8863G>A	c.(8863-8865)Gac>Aac	p.D2955N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2955	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACACATCCGACGTTAATCG	0.522										TCGA Ovarian(4;0.039)		
HEPHL1	341208	broad.mit.edu	37	11	93839268	93839268	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:93839268A>G	uc001pep.2	+	16	3174	c.3017A>G	c.(3016-3018)cAt>cGt	p.H1006R	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	1006	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CATACCATCCATTATCATGCT	0.353												
RNF26	79102	broad.mit.edu	37	11	119206267	119206267	+	Silent	SNP	T	T	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:119206267T>A	uc001pwh.3	+	0	1058	c.435T>A	c.(433-435)gcT>gcA	p.A145A		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	Homo sapiens ring finger protein 26 (RNF26), mRNA.	145	Leu-rich.						zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCTGGTGGCTTATGTGATCA	0.592												
KIAA0528	9847	broad.mit.edu	37	12	22602814	22602815	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:22602814_22602815delAA	uc010sit.2	-	27	3269_3270	c.3041_3042delTT	c.(3040-3042)cttfs	p.L1014fs	KIAA0528_uc010sir.2_Frame_Shift_Del_p.L817fs|KIAA0528_uc010sis.2_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfq.3_Frame_Shift_Del_p.L961fs|KIAA0528_uc010siu.2_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfr.3_Frame_Shift_Del_p.L1003fs	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	961							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTACATTTATAAGACACTGTGC	0.411												
C12orf45	121053	broad.mit.edu	37	12	105380235	105380235	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:105380235C>G	uc001tlb.3	+	0	138	c.105C>G	c.(103-105)gaC>gaG	p.D35E		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	Homo sapiens chromosome 12 open reading frame 45 (C12orf45), mRNA.	35										large_intestine(1)|lung(2)	3						CGGGAAGCGACGGCCGCGGAG	0.706												
HVCN1	84329	broad.mit.edu	37	12	111099056	111099056	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:111099056G>A	uc001trs.1	-	3	384	c.219C>T	c.(217-219)gaC>gaT	p.D73D	HVCN1_uc001trq.1_Silent_p.D73D|HVCN1_uc001trt.1_Silent_p.D73D|HVCN1_uc010syd.1_Silent_p.D53D	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	73					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.P72P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CAGGGGCAACGTCAGGGGCTG	0.617												
RB1	5925	broad.mit.edu	37	13	48955550	48955550	+	Nonsense_Mutation	SNP	C	C	T	rs121913304		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:48955550C>T	uc001vcb.3	+	16	1832	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	556	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.R556*(10)|p.?(8)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGTGAACATCGAATCATGGA	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
OLFM4	10562	broad.mit.edu	37	13	53624151	53624151	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:53624151G>C	uc001vhl.3	+	4	874	c.778G>C	c.(778-780)Gtt>Ctt	p.V260L	OLFM4_uc001vhk.2_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	260	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACCGTCTGTGGTTCAGCTCAA	0.448												
DCT	1638	broad.mit.edu	37	13	95121065	95121065	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:95121065G>A	uc010afh.3	-	1	957	c.530C>T	c.(529-531)gCc>gTc	p.A177V	DCT_uc001vlv.4_Missense_Mutation_p.A177V	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	177					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ACTGCAGTTGGCAAACTGCGG	0.458												
AKAP6	9472	broad.mit.edu	37	14	33014783	33014783	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:33014783G>T	uc001wrq.3	+	3	1094	c.924G>T	c.(922-924)gaG>gaT	p.E308D	AKAP6_uc010aml.3_Missense_Mutation_p.E305D	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	308					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTGGATGTGAGGAAGACAATG	0.488												
SERPINA6	866	broad.mit.edu	37	14	94776220	94776220	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:94776220G>A	uc001ycv.3	-	2	841	c.737C>T	c.(736-738)tCg>tTg	p.S246L	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	246			S -> A (in dbSNP:rs2228541).		regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGGGAGCTCCGAGTCATGAAG	0.542												
SERPINA9	327657	broad.mit.edu	37	14	94935885	94935885	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:94935885A>G	uc001ydf.3	-	1	508	c.347T>C	c.(346-348)cTg>cCg	p.L116P	SERPINA9_uc001yde.3_Intron|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Missense_Mutation_p.L80P|SERPINA9_uc001ydh.1_Missense_Mutation_p.L116P|SERPINA9_uc001ydi.1_Missense_Mutation_p.L80P	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	98					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTTGAAGCCCAGGCCCTGGAG	0.567												
PCSK6	5046	broad.mit.edu	37	15	101933603	101933603	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr15:101933603G>A	uc002bxa.2	-	8	1334	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	PCSK6_uc010bpd.3_Silent_p.F211F|PCSK6_uc002bwy.3_Silent_p.F340F|PCSK6_uc010bpe.3_Silent_p.F337F|PCSK6_uc002bxb.2_Silent_p.F340F|PCSK6_uc002bxc.1_Silent_p.F340F|PCSK6_uc002bxd.1_Silent_p.F340F|PCSK6_uc002bxe.3_Silent_p.F340F|PCSK6_uc002bxg.1_Silent_p.F340F	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	341	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.F340F(4)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGCCCAGACGAAAATGGAGC	0.627												
CREBBP	1387	broad.mit.edu	37	16	3820625	3820625	+	Silent	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:3820625A>G	uc002cvv.3	-	13	3030	c.2826T>C	c.(2824-2826)ccT>ccC	p.P942P	CREBBP_uc002cvw.3_Silent_p.P904P	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	942					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCGATGACTGAGGGGTAGCCA	0.627			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
ITGAD	3681	broad.mit.edu	37	16	31422196	31422196	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:31422196G>A	uc010cap.1	+	11	1402	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	ITGAD_uc002ebv.1_Silent_p.T451T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	451					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACAGGGACGCAGGTTGGGC	0.657												
COQ9	57017	broad.mit.edu	37	16	57492187	57492187	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:57492187C>G	uc002elq.3	+	5	717	c.636C>G	c.(634-636)aaC>aaG	p.N212K	COQ9_uc002els.3_Missense_Mutation_p.N5K	NM_020312	NP_064708	O75208	COQ9_HUMAN	Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.	212					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TCCCTCACAACATCCCGTCCA	0.562												
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:7577568C>A	uc002gim.2	-	6	907	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.3_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAACTGTTACACATGTAGTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:7578265A>T	uc002gim.2	-	5	778	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_uc002gig.1_Missense_Mutation_p.I195N|TP53_uc002gih.3_Missense_Mutation_p.I195N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63N|TP53_uc010cnf.1_Missense_Mutation_p.I63N|TP53_uc002gii.1_Missense_Mutation_p.I63N|TP53_uc010cni.1_Missense_Mutation_p.I195N|TP53_uc010cnh.1_Missense_Mutation_p.I195N|TP53_uc002gij.2_Missense_Mutation_p.I195N|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102N|TP53_uc002gio.2_Missense_Mutation_p.I63N|TP53_uc010vug.2_Missense_Mutation_p.I156N|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCACTCGGATAAGATGCTG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
RAI1	10743	broad.mit.edu	37	17	17697820	17697820	+	Missense_Mutation	SNP	G	G	A	rs147708297		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:17697820G>A	uc002grm.3	+	2	2027	c.1558G>A	c.(1558-1560)Ggc>Agc	p.G520S	RAI1_uc002grn.1_Missense_Mutation_p.G520S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	520						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTACCTGAGCGGCTCCGAGGA	0.687												
SLC13A2	9058	broad.mit.edu	37	17	26818573	26818573	+	Silent	SNP	C	C	T	rs146824818		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:26818573C>T	uc010wan.2	+	4	907	c.840C>T	c.(838-840)atC>atT	p.I280I	SLC13A2_uc010wal.1_Silent_p.I188I|SLC13A2_uc010wam.2_Silent_p.I187I|SLC13A2_uc002hbh.3_Silent_p.I231I|SLC13A2_uc010wao.2_Silent_p.I188I|SLC13A2_uc002hbi.3_Silent_p.I160I	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	231						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCGCCAGCATCGGGGGCATCG	0.632												
VAT1	10493	broad.mit.edu	37	17	41168349	41168349	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:41168349A>G	uc002icm.1	-	4	1193	c.1073T>C	c.(1072-1074)aTt>aCt	p.I358T	VAT1_uc010cyw.1_Missense_Mutation_p.I224T|VAT1_uc010whk.1_Missense_Mutation_p.I290T	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	358						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GACTGAGTCAATGTGGGGCTT	0.607												
GRIN2C	2905	broad.mit.edu	37	17	72851132	72851132	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:72851132C>T	uc002jlt.1	-	1	256	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.V34M|GRIN2C_uc002jlv.1_Missense_Mutation_p.V34M	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	34					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CTAAACACCACAGCCACCGTC	0.706												
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr18:14513764C>T	uc010dln.3	-	9	1884	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	477								p.R477Q(24)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358												
ADAMTS10	81794	broad.mit.edu	37	19	8661249	8661249	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:8661249C>T	uc002mkj.1	-	9	1406	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	ADAMTS10_uc002mkk.1_Missense_Mutation_p.V10I	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	378	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCTCATTGACGCTGCAGCTT	0.662												
MUC16	94025	broad.mit.edu	37	19	9050207	9050207	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:9050207G>A	uc002mkp.3	-	4	31628	c.31424C>T	c.(31423-31425)aCc>aTc	p.T10475I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10477	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGTGGTGGTGGTCTCCAT	0.483												
RAVER1	125950	broad.mit.edu	37	19	10434234	10434234	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:10434234G>A	uc002moa.3	-	3	896	c.816C>T	c.(814-816)tgC>tgT	p.C272C		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	255	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CATCCTGGCCGCACGCCAGCT	0.667												
CYP4F8	11283	broad.mit.edu	37	19	15739191	15739191	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:15739191G>A	uc002nbi.3	+	10	1256	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	CYP4F8_uc010xoj.2_Missense_Mutation_p.A211T	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	399					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCCTACATTCGCCCGCGGCTG	0.637												
OR10H1	26539	broad.mit.edu	37	19	15918727	15918727	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:15918727C>A	uc002nbq.2	-	0	210	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGCAGGTTGCCCAGCAGCGTG	0.597												
EPS15L1	58513	broad.mit.edu	37	19	16515514	16515514	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:16515514A>G	uc002ndx.3	-	13	1319	c.1313T>C	c.(1312-1314)cTc>cCc	p.L438P	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.L328P|EPS15L1_uc002ndz.1_Missense_Mutation_p.L438P|EPS15L1_uc010xpf.1_Missense_Mutation_p.L341P|EPS15L1_uc002nea.1_Missense_Mutation_p.L438P|EPS15L1_uc010eah.1_Missense_Mutation_p.L438P|EPS15L1_uc002neb.1_Missense_Mutation_p.L284P|EPS15L1_uc002nec.1_Missense_Mutation_p.L438P	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	438					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTGAGCCTCGAGCTCCTGCAA	0.542												
PRX	57716	broad.mit.edu	37	19	40901148	40901148	+	Silent	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:40901148T>C	uc002onr.3	-	6	3380	c.3111A>G	c.(3109-3111)gaA>gaG	p.E1037E	PRX_uc002onq.3_Silent_p.E898E|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1037					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.E1037Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGCACTAGTTCTGCTGCCT	0.627												
C19orf54	284325	broad.mit.edu	37	19	41248416	41248416	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:41248416G>A	uc002oou.1	-	5	1098	c.978C>T	c.(976-978)taC>taT	p.Y326Y	C19orf54_uc002oow.1_Silent_p.Y154Y|C19orf54_uc002oox.1_Intron|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	Homo sapiens chromosome 19 open reading frame 54 (C19orf54), mRNA.	326										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGGCACCACGTACACCCGGC	0.662												
FOXA3	3171	broad.mit.edu	37	19	46375547	46375547	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:46375547C>T	uc002pdr.3	+	1	481	c.284C>T	c.(283-285)cCg>cTg	p.P95L		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	95					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TACGGGGCCCCGGGTCCTGGG	0.682												
MYH14	79784	broad.mit.edu	37	19	50713834	50713834	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:50713834G>A	uc010enu.1	+	1	259	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	MYH14_uc002prq.1_Missense_Mutation_p.R71Q|MYH14_uc002prr.1_Missense_Mutation_p.R71Q	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	71	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGGCGCTGCGGGACGAAGGC	0.736												
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:53644386T>A	uc002qbc.2	-	4	2125	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_uc002qbb.2_Silent_p.G565G|ZNF347_uc010eql.2_Silent_p.G566G	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E566*(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408												
BIRC8	112401	broad.mit.edu	37	19	53793037	53793037	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:53793037G>A	uc002qbk.3	-	0	1839	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	197					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AAACAACAGCGATATGTCTGT	0.443												
LILRB1	10859	broad.mit.edu	37	19	55144009	55144009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:55144009C>A	uc002qgj.3	+	6	1096	c.756C>A	c.(754-756)taC>taA	p.Y252*	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Nonsense_Mutation_p.Y252*|LILRB1_uc002qgk.3_Nonsense_Mutation_p.Y252*|LILRB1_uc002qgm.3_Nonsense_Mutation_p.Y252*|LILRB1_uc010erq.3_Nonsense_Mutation_p.Y252*|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	252	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ATGCTGGCTACAACAGATTTG	0.587										HNSCC(37;0.09)		
GDF7	151449	broad.mit.edu	37	2	20870425	20870425	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:20870425G>A	uc002rdz.1	+	1	1169	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	Homo sapiens growth differentiation factor 7 (GDF7), mRNA.	198					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTACTCGCGGGCAGCTGAG	0.731												
CAPN13	92291	broad.mit.edu	37	2	30986009	30986009	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:30986009G>C	uc021vfn.1	-	5	745	c.713C>G	c.(712-714)gCa>gGa	p.A238G	CAPN13_uc021vfm.1_Missense_Mutation_p.A238G|CAPN13_uc002rnp.1_Missense_Mutation_p.A238G	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	238	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CATCGCCTGTGCTGTATCTGT	0.522												
EHBP1	23301	broad.mit.edu	37	2	63086375	63086375	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:63086375G>C	uc002sby.3	+	8	1293	c.811G>C	c.(811-813)Gat>Cat	p.D271H	EHBP1_uc010fcp.3_Missense_Mutation_p.D236H|EHBP1_uc002sbx.2_Missense_Mutation_p.D236H|EHBP1_uc002sbz.3_Missense_Mutation_p.D236H|EHBP1_uc002scb.3_Missense_Mutation_p.D236H	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	271						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AAATCCATTTGATGATCCTGA	0.358												
SMYD5	10322	broad.mit.edu	37	2	73449902	73449902	+	Missense_Mutation	SNP	G	G	A	rs116053390	by1000genomes	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:73449902G>A	uc002siw.2	+	6	691	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	SMYD5_uc010yre.1_Missense_Mutation_p.R105Q	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	221							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAACTTCTGCGGAGACTCTTC	0.592												
SEMA4F	10505	broad.mit.edu	37	2	74907015	74907016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:74907015_74907016insG	uc002sna.1	+	13	2103_2104	c.1992_1993insG	c.(1990-1995)gctggcfs	p.A664fs	SEMA4F_uc010ffr.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snb.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snc.1_Frame_Shift_Ins_p.A509fs	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	664					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	p.G665V(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CGGGACTGGCTGGCTTCTTCTT	0.619												
CLASP1	23332	broad.mit.edu	37	2	122220134	122220134	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:122220134C>T	uc002tnc.3	-	9	1303	c.913G>A	c.(913-915)Gca>Aca	p.A305T	CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.A305T|CLASP1_uc010yza.2_Missense_Mutation_p.A305T|CLASP1_uc021vnl.1_Missense_Mutation_p.A305T|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.A305T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	305					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCATCAAATGCTTTAATAAAA	0.328												
MYO3B	140469	broad.mit.edu	37	2	171358331	171358331	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:171358331A>G	uc002ufy.3	+	27	3469	c.3326A>G	c.(3325-3327)aAa>aGa	p.K1109R	MYO3B_uc002ufv.3_Missense_Mutation_p.K1096R|MYO3B_uc010fqb.1_Missense_Mutation_p.K1109R|MYO3B_uc002ufz.3_Intron|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Intron|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1109	IQ 2.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAATTTAAGAAAATAAGCAAC	0.348												
DFNB59	494513	broad.mit.edu	37	2	179325759	179325759	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179325759C>A	uc002umi.4	+	6	1173	c.817C>A	c.(817-819)Ctt>Att	p.L273I	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.L273I	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	273					sensory perception of sound			p.L273P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTTGGATGATCTTTTTTCTGA	0.348												
TTN	7273	broad.mit.edu	37	2	179423224	179423224	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179423224T>A	uc021vsy.1	-	275	79483	c.79258A>T	c.(79258-79260)Aac>Tac	p.N26420Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N20115Y|TTN_uc021vta.1_Missense_Mutation_p.N20048Y|TTN_uc021vtb.1_Missense_Mutation_p.N19923Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27347	Fibronectin type-III 92.						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)			TTAACCCAGTTTTTCTGTCCT	0.438												
TTN	7273	broad.mit.edu	37	2	179424446	179424446	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179424446C>A	uc021vsy.1	-	274	78934	c.78709G>T	c.(78709-78711)Gac>Tac	p.D26237Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D19932Y|TTN_uc021vta.1_Missense_Mutation_p.D19865Y|TTN_uc021vtb.1_Missense_Mutation_p.D19740Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27164	Fibronectin type-III 91.						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)			GTACGAGAGTCTGTGGTATCA	0.433												
SGPP2	130367	broad.mit.edu	37	2	223339305	223339305	+	Missense_Mutation	SNP	G	G	A	rs147179845		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:223339305G>A	uc010zlo.2	+	1	238	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	SGPP2_uc010zlp.2_5'UTR	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	80					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		ACAGAAGTACGTCGTGAAGAA	0.363												
SP140	11262	broad.mit.edu	37	2	231106159	231106159	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:231106159C>T	uc002vql.3	+	3	562	c.447C>T	c.(445-447)aaC>aaT	p.N149N	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.N149N|SP140_uc002vqn.3_Silent_p.N149N|SP140_uc002vqm.3_Silent_p.N149N|SP140_uc010fxl.3_Silent_p.N149N	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	149					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATAATGTAAACGATTTAGAAG	0.373												
RBM44	375316	broad.mit.edu	37	2	238726827	238726827	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:238726827A>G	uc002vxi.4	+	2	1400	c.1268A>G	c.(1267-1269)cAg>cGg	p.Q423R		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	422							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGAGATAATCAGGCAATAGAA	0.368												
C20orf118	140711	broad.mit.edu	37	20	35507541	35507541	+	Missense_Mutation	SNP	G	G	A	rs147682253		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:35507541G>A	uc002xgg.1	+	2	295	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	C20orf118_uc021wcz.1_Missense_Mutation_p.R96Q	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	96	TLD.									kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				CTGTACCGGCGGATGGAGGGC	0.667												
NEURL2	140825	broad.mit.edu	37	20	44519558	44519558	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:44519558G>A	uc002xqg.1	-	0	344	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	CTSA_uc002xqh.3_5'Flank|CTSA_uc002xqj.4_5'Flank|CTSA_uc010zxi.2_5'Flank|CTSA_uc002xqi.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	Homo sapiens neuralized homolog 2 (Drosophila) (NEURL2), mRNA.	25	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CGATGGAAGCGGGTGGGAGGG	0.711												
NFATC2	4773	broad.mit.edu	37	20	50140360	50140360	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:50140360C>T	uc002xwd.3	-	1	640	c.420G>A	c.(418-420)ccG>ccA	p.P140P	NFATC2_uc002xwc.3_Silent_p.P140P|NFATC2_uc010zyv.2_Intron|NFATC2_uc010zyw.2_Intron|NFATC2_uc002xwe.3_Silent_p.P120P|NFATC2_uc010zyx.2_Silent_p.P120P|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	140	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGCCAGGGGCGGCTGCTCCA	0.721												
LAMA5	3911	broad.mit.edu	37	20	60912694	60912694	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:60912694G>A	uc002ycq.3	-	15	2183	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W	LAMA5_uc021wfw.1_Missense_Mutation_p.R706W	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	706	Laminin EGF-like 8.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGTCACACCGCAGCCCCGTC	0.667												
APP	351	broad.mit.edu	37	21	27369692	27369692	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr21:27369692G>A	uc002ylz.3	-	7	1273	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	APP_uc010glk.3_Intron|APP_uc002yma.3_Intron|APP_uc011ach.2_Missense_Mutation_p.A302V|APP_uc021whz.1_Missense_Mutation_p.A358V|APP_uc021wia.1_Intron|APP_uc002ymb.3_Intron|APP_uc010glj.3_Intron|APP_uc021wib.1_Intron|APP_uc011aci.2_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	358					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGGATCTCGGGCAAGAGGTTC	0.438												
TOP3B	8940	broad.mit.edu	37	22	22317253	22317253	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:22317253C>A	uc002zvs.3	-	11	1652	c.1217G>T	c.(1216-1218)tGg>tTg	p.W406L	TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Missense_Mutation_p.W406L|TOP3B_uc010gtl.3_Missense_Mutation_p.W406L	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	406					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		ATAGAGCCGCCACGCGTCACC	0.617												
ADRBK2	157	broad.mit.edu	37	22	26086159	26086159	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:26086159G>A	uc003abx.4	+	11	1108	c.961G>A	c.(961-963)Gca>Aca	p.A321T	ADRBK2_uc010gux.3_Missense_Mutation_p.A321T|ADRBK2_uc003abw.2_Missense_Mutation_p.A208T|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	321	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TGTTTAGCCAGCAAATATTCT	0.398												
OSBP2	23762	broad.mit.edu	37	22	31137264	31137264	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:31137264T>G	uc003aiy.1	+	1	865	c.761T>G	c.(760-762)cTc>cGc	p.L254R	OSBP2_uc011ala.1_Missense_Mutation_p.L89R|OSBP2_uc010gwc.1_Missense_Mutation_p.L81R|OSBP2_uc003aix.1_Missense_Mutation_p.L254R|OSBP2_uc011alb.1_Missense_Mutation_p.L254R|OSBP2_uc003aiz.1_Missense_Mutation_p.L254R	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	254	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGCTACCACCTCAAGGCCAGC	0.612												
MORC2	22880	broad.mit.edu	37	22	31336801	31336801	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:31336801C>T	uc003aje.1	-	10	2026	c.662G>A	c.(661-663)cGt>cAt	p.R221H		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	283							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGTCTTGAAACGGCTTGACGT	0.567												
ZFYVE20	64145	broad.mit.edu	37	3	15115967	15115967	+	Silent	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:15115967C>A	uc003bzm.1	-	13	2291	c.1677G>T	c.(1675-1677)ctG>ctT	p.L559L	ZFYVE20_uc010hek.1_Silent_p.L559L	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	559	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGCTGGGCTCCAGCTGAAAAG	0.572												
DHX30	22907	broad.mit.edu	37	3	47888187	47888187	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:47888187G>A	uc003cru.3	+	10	2051	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	DHX30_uc003crt.3_Missense_Mutation_p.R503H|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	542	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCCTGCTGCGTAAGCTGCAG	0.627												
MST1	4485	broad.mit.edu	37	3	49724639	49724639	+	Missense_Mutation	SNP	A	A	G	rs41291704		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:49724639A>G	uc003cxg.3	-	4	622	c.550T>C	c.(550-552)Tac>Cac	p.Y184H	MST1_uc011bcs.1_Missense_Mutation_p.Y184H|MST1_uc010hkx.2_Missense_Mutation_p.Y105H|MST1_uc011bct.1_Missense_Mutation_p.Y184H|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	170	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTTGTGTAGCACCAAGGA	0.627												
NEK4	6787	broad.mit.edu	37	3	52778291	52778291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:52778291G>A	uc003dfq.4	-	10	2061	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	NEK4_uc011bej.2_Nonsense_Mutation_p.R531*|NEK4_uc003dfr.3_Nonsense_Mutation_p.R574*	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	620					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TGCTTTAGTCGCCTCCTCTCT	0.413												
ACOX2	8309	broad.mit.edu	37	3	58510285	58510285	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:58510285G>A	uc003dkl.3	-	10	1569	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	465					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTCTGTGGCGTGGAGCCAGG	0.617												
C3orf67	200844	broad.mit.edu	37	3	58853638	58853638	+	Missense_Mutation	SNP	G	G	A	rs141916956	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:58853638G>A	uc003dkt.1	-	9	1074	c.665C>T	c.(664-666)cCg>cTg	p.P222L	C3orf67_uc003dks.1_Missense_Mutation_p.P37L|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.P37L|C3orf67_uc003dkw.3_Intron	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	222								p.P222L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGGGGGATGCGGATGCATAAT	0.388												
ZXDC	79364	broad.mit.edu	37	3	126160628	126160628	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:126160628C>G	uc003eiv.3	-	7	2428	c.2374G>C	c.(2374-2376)Gtc>Ctc	p.V792L	ZXDC_uc010hsh.3_Non-coding_Transcript	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	792	Interaction with CIITA.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TGGACCTGGACGCCCTGCGCC	0.677												
TRIM42	287015	broad.mit.edu	37	3	140397352	140397352	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:140397352G>A	uc003eto.2	+	0	487	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	94	Cys-rich.					intracellular	zinc ion binding	p.R94C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATGAGAGCCGCTGCTGCCGC	0.557												
CP	1356	broad.mit.edu	37	3	148901264	148901264	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:148901264A>T	uc003ewy.4	-	12	2667	c.2414T>A	c.(2413-2415)cTg>cAg	p.L805Q	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.L586Q|CP_uc003ewz.3_Missense_Mutation_p.L805Q	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	805	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TAGAATTCCCAGATGTTCTTC	0.398												
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:178952072A>G	uc003fjk.3	+	20	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(62)|p.M1043V(43)|p.M1043T(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
DRD5	1816	broad.mit.edu	37	4	9784905	9784905	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:9784905G>A	uc003gmb.4	+	0	1648	c.1252G>A	c.(1252-1254)Gtt>Att	p.V418I		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	418					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.A417T(2)|p.V418I(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCCCAACGCCGTTACCCCCGG	0.557												
KLB	152831	broad.mit.edu	37	4	39408665	39408665	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:39408665C>A	uc003gua.3	+	0	193	c.96C>A	c.(94-96)aaC>aaA	p.N32K	KLB_uc011byj.2_Missense_Mutation_p.N32K	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	32					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAATGTCCAACGGGGGATTGC	0.453												
FRAS1	80144	broad.mit.edu	37	4	79173649	79173649	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:79173649A>G	uc003hlb.2	+	4	853	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	FRAS1_uc003hkw.3_Missense_Mutation_p.Q138R|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.3_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	138	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGGACACCAGGAGCTGGCA	0.562												
CENPE	1062	broad.mit.edu	37	4	104117134	104117134	+	Silent	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:104117134T>C	uc003hxb.1	-	3	390	c.300A>G	c.(298-300)gaA>gaG	p.E100E	CENPE_uc003hxc.1_Silent_p.E100E	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	100	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCAAATGATCTTCTGAACCCA	0.348												
PRSS12	8492	broad.mit.edu	37	4	119239641	119239641	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:119239641G>A	uc003ica.2	-	4	1089	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	348	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGTGCAGCGTACTTCATCC	0.478												
TLL1	7092	broad.mit.edu	37	4	166910622	166910622	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:166910622G>A	uc003irh.2	+	1	906	c.259G>A	c.(259-261)Gga>Aga	p.G87R	TLL1_uc021xud.1_Missense_Mutation_p.G87R|TLL1_uc011cjn.2_Missense_Mutation_p.G87R|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	87					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G87E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAACCCCTTTGGAAACCTTGG	0.333												
ENPP6	133121	broad.mit.edu	37	4	185018423	185018423	+	Silent	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:185018423C>G	uc003iwc.3	-	6	1234	c.1092G>C	c.(1090-1092)cgG>cgC	p.R364R		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	364					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGAAGATGCCCCGCATGTCCA	0.587												
PRDM9	56979	broad.mit.edu	37	5	23527861	23527861	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:23527861C>T	uc003jgo.3	+	10	2846	c.2664C>T	c.(2662-2664)taC>taT	p.Y888Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	888					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTACGTCTGCAGGG	0.527										HNSCC(3;0.000094)		
FAM170A	340069	broad.mit.edu	37	5	118970068	118970068	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:118970068G>A	uc003ksm.2	+	2	835	c.625G>A	c.(625-627)Gtt>Att	p.V209I	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.V209I|FAM170A_uc003kso.3_Missense_Mutation_p.V162I	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	209						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTCACCCACCGTTGAGGACAC	0.587												
PCDHAC2	56141	broad.mit.edu	37	5	140215694	140215694	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140215694G>A	uc003lhq.2	+	0	1726	c.1726G>A	c.(1726-1728)Gca>Aca	p.A576T	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_uc011dac.2_Missense_Mutation_p.A576T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	589	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)			CACTGGTGGCGCAGTGAGAGA	0.662												
PCDHAC2	56140	broad.mit.edu	37	5	140221979	140221979	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140221979C>G	uc003lhs.2	+	0	1073	c.1073C>G	c.(1072-1074)cCt>cGt	p.P358R	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_uc003lhr.1_Missense_Mutation_p.P358R	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	373	Cadherin 3.				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)			TTATCCTTGCCTGTACGTGAA	0.502												
PCDHGC5	56113	broad.mit.edu	37	5	140720522	140720522	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140720522G>A	uc003ljk.2	+	0	2169	c.1984G>A	c.(1984-1986)Gtg>Atg	p.V662M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.V662M	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	664	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGCTCACCGTGGCCGTGGC	0.682												
PCDHGC5	56113	broad.mit.edu	37	5	140720558	140720558	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140720558G>A	uc003ljk.2	+	0	2205	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D674N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	676	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCTGGCCGACCTGGGCAG	0.687												
TBC1D9B	23061	broad.mit.edu	37	5	179318430	179318430	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:179318430G>A	uc003mlh.3	-	5	1028	c.993C>T	c.(991-993)tgC>tgT	p.C331C	TBC1D9B_uc003mli.3_Silent_p.C331C|TBC1D9B_uc003mlj.3_Silent_p.C331C	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	331	GRAM 2.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTGGCGAAGCAGATGTAGT	0.592												
DSP	1832	broad.mit.edu	37	6	7582878	7582878	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:7582878T>C	uc003mxp.1	+	23	5662	c.5383T>C	c.(5383-5385)Tct>Cct	p.S1795P	DSP_uc003mxq.1_Missense_Mutation_p.S1196P|DSP_uc021yle.1_Missense_Mutation_p.S1352P	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1795	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATTCCAGGCATCTAATAGGAT	0.353												
PHACTR1	221692	broad.mit.edu	37	6	13278556	13278556	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:13278556C>G	uc003nah.2	+	11	1877	c.1504C>G	c.(1504-1506)Cga>Gga	p.R502G	PHACTR1_uc010jpc.3_Missense_Mutation_p.R502G|TBC1D7_uc003naj.3_Intron|TBC1D7_uc011dis.2_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	502						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGGCTAACCCGAAAGGTAGG	0.507												
DDX39B	7919	broad.mit.edu	37	6	31508154	31508154	+	Silent	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:31508154G>C	uc003ntt.3	-	1	814	c.156C>G	c.(154-156)ctC>ctG	p.L52L	DDX39B_uc003ntu.3_Silent_p.L52L|DDX39B_uc011dnn.2_Nonsense_Mutation_p.S48*|DDX39B_uc003ntv.3_Silent_p.L52L|DDX39B_uc003ntw.2_Silent_p.L52L|DDX39B_uc003ntx.2_Silent_p.L52L|DDX39B_uc011dno.1_Nonsense_Mutation_p.S48*|DDX39B_uc011dnp.1_Nonsense_Mutation_p.S48*|DDX39B_uc011dnq.1_Non-coding_Transcript	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	52					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ACTCTGGCTTGAGCAGGAAGT	0.547												
SKIV2L	6499	broad.mit.edu	37	6	31933760	31933760	+	Silent	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:31933760C>A	uc003nyn.1	+	17	2561	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	SKIV2L_uc011dou.1_Silent_p.P566P|SKIV2L_uc011dov.1_Silent_p.P531P	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	724	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCGAGTGCCCGAGATGGCAG	0.652												
FAXC	84553	broad.mit.edu	37	6	99729047	99729047	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:99729047C>A	uc003ppj.4	-	5	1506	c.1223G>T	c.(1222-1224)tGc>tTc	p.C408F	FAXC_uc003ppi.4_Missense_Mutation_p.C128F	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA.	408																	ACGTCACTTGCACTGTTCGTG	0.517												
BCLAF1	9774	broad.mit.edu	37	6	136597032	136597032	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:136597032C>T	uc003qgx.1	-	4	1884	c.1631G>A	c.(1630-1632)cGt>cAt	p.R544H	BCLAF1_uc003qgy.1_Missense_Mutation_p.R542H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R542H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R371H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	544					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R544H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GACTTCAGGACGGTGAGAATC	0.433												
SYNE1	23345	broad.mit.edu	37	6	152685991	152685991	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:152685991C>T	uc021zhb.1	-	60	10359	c.10136G>A	c.(10135-10137)cGt>cAt	p.R3379H	SYNE1_uc003qot.4_Missense_Mutation_p.R3386H|SYNE1_uc003qou.4_Missense_Mutation_p.R3379H|SYNE1_uc010kja.2_Missense_Mutation_p.R84H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3379					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTTTACAACGAATCCCTGC	0.468										HNSCC(10;0.0054)		
INMT	11185	broad.mit.edu	37	7	30795056	30795056	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:30795056G>A	uc003tbs.1	+	2	397	c.381G>A	c.(379-381)aaG>aaA	p.K127K	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Silent_p.K126K	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	127						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGGAGGAGAAGGAGGAGAAGC	0.637												
SEPT7	989	broad.mit.edu	37	7	35872442	35872442	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:35872442C>T	uc010kxc.3	+	1	319	c.95C>T	c.(94-96)gCc>gTc	p.A32V	SEPT7_uc011kat.2_Missense_Mutation_p.A32V|SEPT7_uc011kau.2_Intron|SEPT7_uc011kav.2_5'UTR	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	34					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.V32G(1)|p.V32V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GTGGGATTTGCCAATCTCCCA	0.363												
NACAD	23148	broad.mit.edu	37	7	45120514	45120514	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:45120514C>G	uc003tmt.3	-	5	4512	c.4512G>C	c.(4510-4512)agG>agC	p.R1504S		NM_001146334	NP_001139806	O15069	NACAD_HUMAN	Homo sapiens NAC alpha domain containing (NACAD), mRNA.	1504					protein transport	cytoplasm|nucleus				breast(1)|endometrium(2)|skin(2)	5						TGCACTCCAGCCTCACCCGGG	0.637												
COL1A2	1278	broad.mit.edu	37	7	94034005	94034005	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:94034005G>T	uc003ung.1	+	8	796	c.325_splice	c.e8-1	p.G109_splice	COL1A2_uc011kib.1_Splice_Site_p.G109_splice|COL1A2_uc022ahm.1_Splice_Site|COL1A2_uc010lfh.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	109					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTTCTTTTAGGGCCCTCAAGG	0.403										HNSCC(75;0.22)		
MUC17	140453	broad.mit.edu	37	7	100675953	100675953	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:100675953A>G	uc003uxp.1	+	2	1309	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	419	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATTCCTGTTGACTCCAAAACT	0.463												
MGAM	8972	broad.mit.edu	37	7	141736731	141736731	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:141736731C>T	uc003vwy.3	+	17	2239	c.2185C>T	c.(2185-2187)Cgt>Tgt	p.R729C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	729	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTCTTCTTCCGTGCTCACAG	0.493												
PRSS58	136541	broad.mit.edu	37	7	141954883	141954883	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:141954883C>T	uc003vxb.3	-	2	748	c.428G>A	c.(427-429)tGt>tAt	p.C143Y	PRSS58_uc003vxc.4_Missense_Mutation_p.C143Y	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	143	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ACAGATATCACACACATTGTA	0.433												
ZNF282	8427	broad.mit.edu	37	7	148921339	148921339	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:148921339G>A	uc003wfm.3	+	7	1721	c.1616G>A	c.(1615-1617)aGc>aAc	p.S539N	ZNF282_uc011kun.1_Splice_Site_p.P454_splice|ZNF282_uc003wfo.3_Missense_Mutation_p.A216T	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	539					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R538C(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CACCACCGCAGCCACACCAAG	0.682												
TEX15	56154	broad.mit.edu	37	8	30694497	30694497	+	Silent	SNP	C	C	T	rs142941425		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:30694497C>T	uc003xil.3	-	2	8154	c.8154G>A	c.(8152-8154)gcG>gcA	p.A2718A		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2718										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTGGCTCCCCCGCAAAATAAG	0.423												
PXDNL	137902	broad.mit.edu	37	8	52387561	52387561	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:52387561G>A	uc003xqu.4	-	6	766	c.665C>T	c.(664-666)gCt>gTt	p.A222V		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	222	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTTACTGAAGCAACTGCACG	0.463												
TSNARE1	203062	broad.mit.edu	37	8	143436006	143436006	+	Missense_Mutation	SNP	T	T	C	rs117184426	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:143436006T>C	uc003ywj.3	-	0	119	c.80A>G	c.(79-81)cAg>cGg	p.Q27R	TSNARE1_uc011lju.2_Missense_Mutation_p.Q27R|TSNARE1_uc003ywk.3_Missense_Mutation_p.Q27R|TSNARE1_uc003ywl.4_Missense_Mutation_p.Q27R	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	27					vesicle-mediated transport	integral to membrane		p.Q27H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACCTAGGGGCTGACAGCCTTG	0.602												
SPATC1	375686	broad.mit.edu	37	8	145095019	145095019	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:145095019C>G	uc011lkw.2	+	1	523	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	SPATC1_uc011lkx.2_Missense_Mutation_p.L141V	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	141										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCAGCTTCCTGACCAGTCC	0.682												
ADAMTSL1	92949	broad.mit.edu	37	9	18777020	18777020	+	Silent	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:18777020T>C	uc003zne.4	+	18	2945	c.2793T>C	c.(2791-2793)taT>taC	p.Y931Y		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	931	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTTCGGCTATCTCAAGATCC	0.662												
NOL6	65083	broad.mit.edu	37	9	33467806	33467806	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:33467806C>T	uc003zsz.3	-	11	1586	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Silent_p.L495L|NOL6_uc010mjv.3_Silent_p.L492L|NOL6_uc011lob.2_Silent_p.L443L|NOL6_uc003ztb.1_Silent_p.L495L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	495					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CATTGTCCTGCAGCTCTGGCC	0.637												
C9orf139	401563	broad.mit.edu	37	9	139929144	139929144	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:139929144C>T	uc004ckp.1	+	2	1725	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	71										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TGTCCTGCCACGCCTGCGGGT	0.657												
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	Silent	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:141071110A>G	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597												
DACH2	117154	broad.mit.edu	37	X	85403790	85403790	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:85403790G>A	uc004eew.2	+	0	336	c.166G>A	c.(166-168)Gga>Aga	p.G56R	DACH2_uc004eex.2_Missense_Mutation_p.G56R|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	56	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.G56R(3)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAACAGTGCCGGAGGCGGCGG	0.567												
SRPX2	27286	broad.mit.edu	37	X	99925877	99925877	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:99925877T>C	uc004egb.3	+	10	1771	c.1291T>C	c.(1291-1293)Tac>Cac	p.Y431H		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	431					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CCGAGACCGCTACATGGAACC	0.512											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARMCX5-GPRASP2	114928	broad.mit.edu	37	X	101972268	101972268	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:101972268C>G	uc022cbh.1	+	0	2471	c.2471C>G	c.(2470-2472)gCc>gGc	p.A824G	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.A824G|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.A824G	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	824						cytoplasm	protein binding										CAACTACAAGCCCAAATAGAC	0.403												
ZCCHC18	644353	broad.mit.edu	37	X	103359839	103359839	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:103359839C>G	uc011msh.2	+	2	2353	c.1037C>G	c.(1036-1038)aCa>aGa	p.T346R	SLC25A53_uc004elu.3_Intron|ZCCHC18_uc011msg.2_Intron	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN	Homo sapiens zinc finger, CCHC domain containing 18 (ZCCHC18), transcript variant 1, mRNA.	346							nucleic acid binding|zinc ion binding										CGAAAATACACAACCCGCTGT	0.483												
